A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.

The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive treatment, including CHD, is a key for prolonged survival in patients with neonatal-onset CPT II deficiency.

Decrease of Cardiac Base Rotation in 2D Speckle Tracking Indicates Drug-induced Cardiomyopathy After Chemotherapy in Children With Cancer.

Drug-induced cardiomyopathy can be life-threatening in patients with cancer. Our objective was to explore early detection of drug-induced cardiomyopathy in children with cancer. We enrolled pediatric outpatients diagnosed with cancer between 2012 and 2013. In addition, we recruited pediatric outpatients in good general condition without cardiac disease or cancer, as controls. We measured the serum levels of biomarkers and performed chest radiography, electrocardiography, and ultrasound cardiography (UCG). We analyzed left ventricular (LV) torsion and torsion-related parameters using 2-dimensional (2D) speckle tracking on UCG. In total, 35 pediatric patients were enrolled. All patients showed negative findings for plasma troponin T, radiography, and electrocardiography. During 2D speckle tracking, 9 patients were excluded due to inappropriate dynamic echo images. We compared UCG findings between 26 patients and 16 controls. Although there was no difference in ejection fraction between patients and controls, peak LV torsion tended to be lower in patients than in controls, and the absolute basal rotation value at the timing of peak LV torsion was significantly lower in patients than in controls. In conclusion, a decrease of basal rotation in 2D speckle tracking might indicate the initial changes leading to myocardial disorder after chemotherapy.

Non-invasive Monitoring of Hepatic Oxygenation Using Time-Resolved Spectroscopy.

UNLABELLED: The aim of the present study was to investigate whether changes in hepatic oxygenation can be detected by time-resolved spectroscopy (TRS) placed on the skin surface above the liver. METHODS: With approval of the local Hospital Ethics Committee and informed consent, six healthy volunteers aged 28.8 (25-36) years, and five patients with chronic renal failure aged 70.6 (58-81) years were studied. In six healthy volunteers, following echography, TRS (TRS-10, Hamamatsu Photonics K.K., Hamamatsu, Japan) probes consisting of a near-infrared light (at 760, 800, 835 nm) emitter and a receiver optode, were placed 4 cm apart on the abdominal skin surface above the liver or at least 10 cm distant from the liver. In five patients with chronic renal failure, following echography, TRS probes were placed 4 cm apart on the skin surface above the liver during hemodialysis (HD). RESULTS: In six healthy volunteers, the values of abdominal total hemoglobin concentration (tHb) were significantly higher in the liver area than in the other area (80.6±26.81 vs 44.6±23.1 µM, p=0.0017), while the value of abdominal SO2 in the liver area was nearly the same as that in the other area (71.5±3.6 vs 73.6±4.6%, p=0.19). The values of mean optical pathlength and scattering coefficient (µ's) at 800 nm in the liver area were significantly different from those in the other area (21.3±4.9 vs 29.2±5 cm, p=0.0004, and 7.97±1.14 vs 9.02±0.51 cm(-1), p=0.015). One of five patients with chronic renal failure complained of severe abdominal pain during HD, and abdominal SO2 decreased from 53 to 22%; however, pain relief occurred following cessation of HD, and SO2 recovered to the baseline level. CONCLUSIONS: Our data suggest that the optical properties of the liver may be measured by the TRS placed on the skin surface, and the hepatic oxygenation may act as a non-invasive monitoring for early detection of intestinal ischemia.

Immunoglobulin G values before treatment are correlated with the responsiveness to initial intravenous immunoglobulin therapy for Kawasaki disease.

BACKGROUND: Low levels of serum immunoglobulin G (IgG) before intravenous immunoglobulin (IVIG) therapy for Kawasaki disease (KD) have been reported as one of the risk factors for coronary artery abnormalities (CAAs). This risk factor needs to be re-evaluated because the dosage of IVIG has changed from 0.2-0.4 g/kg/day for 5 days to a single high dose of 2 g/kg. METHODS: We reviewed the clinical records of KD patients admitted to our hospital from January 2001 to August 2011. Patients who were given a single high dose of IVIG within 7 days of illness, and who had blood collected for serum immunoglobulin values before treatment, were selected. The serum immunoglobulin levels and coronary artery diameters measured by echocardiogram were transformed to z-scores. RESULTS: The subjects were 197 KD patients, including 22 IVIG nonresponders and 16 patients with CAAs. Of these, 150 (76%) had a z-score for IgG (IgGz) of ≤0. There were no differences in IgGz values between patients with CAAs and those without CAAs. However, nonresponders had higher IgGz values than responders (median, 25th percentile and 75th percentile: -0.26, -0.83 and 0.34 vs. -0.79, -1.40 and -0.03; p = 0.020). Logistic regression analysis showed that the IgGz value was an independent risk factor for resistance to IVIG (OR 1.36, 95% CI 1.002-1.849; p = 0.048). CONCLUSIONS: Low IgGz values were not a risk factor for CAAs in this study. However, KD patients with relatively high IgGz values before treatment may have an increased risk of resistance to initial IVIG therapy. © 2014 S. Karger AG, Basel.

Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in CFTR (CF transmembrane conductance regulator). Although CF is the most common hereditary disease in Caucasians, it is rare in Asian populations. Common disease-causing mutations of CFTR in Caucasians are rarely identified in Japanese patients with CF. In the present study, CFTR transcripts from nasal swab were analyzed in a Japanese boy, in addition to conventional PCR and direct sequence of all exons, their boundaries and promoter region of the CFTR gene. The boy was diagnosed with CF by chronic respiratory infection and the elevated sweat chloride level. None of the disease-causing mutations of CFTR was detected by the conventional analysis. Cloning and sequence of the CFTR transcripts revealed a heterozygous deletion spanning exons 16, 17a and 17b. The deletion was confirmed by multiplex ligation-dependent probe amplification and the direct sequence of the junction fragment obtained from the genomic DNA by primer walking, which revealed the mutation c.2908+1085_3367+260del7201. We also identified a splicing defect: deletion/skipping of exon 1 in the CFTR transcript from the other allele. The analysis of CFTR transcripts from nasal swab is recommended in the genetic analysis of CF in Japanese.

Serum procalcitonin value is useful for predicting severity of Kawasaki disease.

We measured serum procalcitonin concentrations in 160 patients suffering from Kawasaki disease. Serum procalcitonin was significantly higher in nonresponders to an initial intravenous immunoglobulin treatment than in responders. A cutoff value of procalcitonin (0.5 ng/mL) for nonresponders showed that the sensitivity was 85% and the accuracy was 64%. Multivariate logistic regression analysis revealed that procalcitonin-positive cases showed the highest risk for nonresponders.